Brain Advance Access published online on June 7, 2006
Brain, doi:10.1093/brain/awl146
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1 Laboratoire de neurogénétique, Center for the study of brain diseases, Centre de recherche du CHUM, Montreal, Québec, Canada
* To whom correspondence should be addressed. Congenital muscular dystrophies (CMDS) are a heterogeneous group of disorders. A growing number of CMDS have been found to be associated with joint hyperlaxity. We recruited 14 French-Canadian cases belonging to 11 families affected by a novel autosomal recessive congenital muscular dystrophy with hyperlaxity (CMDH). All cases come from the southwestern part of Quebec, suggesting a new French-Canadian founder effect. All patients present muscle weakness, proximal contractures coexisting with distal joint hyperlaxity. Pathological and genetic studies have excluded that mutations in the three genes coding for collagen VI subunits are responsible for this disease. A genome-wide scan established linkage of two CMDH families to a region on chromosome 3p23-21. Further linkage analysis confirmed that all families are linked to the same region (log of the odds score of 5.3). Haplotype analysis defines a 1.6-cM candidate interval and suggests that two common mutations may account for 78% of carrier chromosomes. This study describes and maps a new form of recessive CMD with joint hyperlaxity distinct from Ullrich and Bethlem myopathies with a founder effect in the French-Canadian population.
Received January 18, 2006
Revised April 25, 2006
Accepted May 8, 2006
Article
A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21
M. Tétreault 1,
A. Duquette 1,
I. Thiffault 1,
C. Bherer 2,
J. Jarry 1,
L. Loisel 1,
B. Banwell 3,
G. D'Anjou 4,
J. Mathieu 5,
Y. Robitaille 6,
M. Vanasse 4,
and
B. Brais 7 *
2 Laboratoire de neurogénétique, Center for the study of brain diseases, Centre de recherche du CHUM, Montreal, Québec, Canada; Démographie et épidémiologie génétique, Université du Québec à Chicoutimi, Québec, Canada
3 Division of Neurology, the Hospital for Sick Children, Toronto, Ontario, Canada
4 Clinique des maladies neuromusculaires, Centre de réadaptation Marie-Enfant, Hôpital Sainte-Justine, Montreal, Québec, Canada
5 Clinique des maladies neuromusculaires, Carrefour de Santé de Jonquière, Saguenay, Québec, Canada
6 Département de pathologie, Hôpital Sainte-Justine, Montreal, Québec, Canada
7 Laboratoire de neurogénétique, Center for the study of brain diseases, Centre de recherche du CHUM, Montreal, Québec, Canada; Clinique des maladies neuromusculaires, Centre de réadaptation Marie-Enfant, Hôpital Sainte-Justine, Montreal, Québec, Canada; Clinique des maladies neuromusculaires, Carrefour de Santé de Jonquière, Saguenay, Québec, Canada
B. Brais, E-mail: Bernard.Brais{at}umontreal.ca
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